SatXplor-a comprehensive pipeline for satellite DNA analyses in complex genome assemblies.

Abstract

Satellite DNAs (satDNAs) are tandemly repeated sequences that make up a significant portion of almost all eukaryotic genomes. Although satDNAs have been shown to play an important role in genome organization and evolution, they are relatively poorly analyzed, even in model organisms. One of the main reasons for the current lack of in-depth studies on satDNAs is their underrepresentation in genome assemblies. Due to complexity, abundance, and highly repetitive nature of satDNAs, their analysis is challenging, requiring efficient tools that ensure accurate annotation and comprehensive genome-wide analysis. We present a novel pipeline, named satellite DNA Exploration (SatXplor), designed to robustly characterize satDNA elements and analyze their arrays and flanking regions. SatXplor is benchmarked against other tools and curated satDNA datasets from diverse species, including mice and humans, showcase its versatility across genomes with varying complexities and satDNA profiles. Component algorithms excel in the identification of tandemly repeated sequences and, for the first time, enable evaluation of satDNA variation and array annotation with the addition of information about surrounding genomic landscape. SatXplor is an innovative pipeline for satDNA analysis that can be paired with any tool used for satDNA detection, offering insights into the structural characteristics, array determination, and genomic context of satDNA elements. By integrating various computational techniques, from sequence analysis and homology investigation to advanced clustering and graph-based methods, it provides a versatile and comprehensive approach to explore the complexity of satDNA organization and understand the underlying mechanisms and evolutionary aspects. It is open-source and freely accessible at https://github.com/mvolar/SatXplor.